Variant report

Variant	rs17159751
Chromosome Location	chr5:106641408-106641409
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106634442..106636070-chr5:106639631..106642528,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515370	1.00[ASN][1000 genomes]
rs10515372	1.00[ASN][1000 genomes]
rs11948860	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163748	1.00[ASN][1000 genomes]
rs13165897	1.00[ASN][1000 genomes]
rs13167605	1.00[ASN][1000 genomes]
rs13169680	1.00[ASN][1000 genomes]
rs13179809	1.00[ASN][1000 genomes]
rs13184636	1.00[ASN][1000 genomes]
rs13184643	1.00[ASN][1000 genomes]
rs13184806	1.00[ASN][1000 genomes]
rs13186418	1.00[ASN][1000 genomes]
rs17159641	1.00[ASN][1000 genomes]
rs17159727	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159745	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343335	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343762	1.00[ASN][1000 genomes]
rs17400404	1.00[ASN][1000 genomes]
rs17402238	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403350	1.00[ASN][1000 genomes]
rs1895462	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35709847	1.00[ASN][1000 genomes]
rs35740714	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35748495	1.00[ASN][1000 genomes]
rs35775035	1.00[ASN][1000 genomes]
rs55849939	1.00[ASN][1000 genomes]
rs56283997	1.00[ASN][1000 genomes]
rs60635486	1.00[ASN][1000 genomes]
rs66460437	1.00[ASN][1000 genomes]
rs67504033	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67878207	0.89[EUR][1000 genomes]
rs6897756	1.00[ASN][1000 genomes]
rs72784111	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784113	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765075	1.00[ASN][1000 genomes]
rs7701101	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17159751	HIST1H2BD	trans	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106637400-106641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:106641200-106641800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:106641400-106642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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